A boy’s family waited years for a rare genetic diagnosis

By the Editorial Team · Monday, October 12, 2026

Fifteen-year-old Oliver Broner of Needham, Massachusetts, was diagnosed with a likely pathogenic variant in the DNM1L gene after years of unexplained developmental challenges and genetic testing. This discovery, supported by research using fruit fly models through the Undiagnosed Diseases Network, not only provided clarity on his condition but also led his family to establish a foundation aimed at advancing research and support for others with similar rare genetic disorders.

Oliver Broner, a 15-year-old boy from Needham, Massachusetts, was diagnosed with a rare genetic disorder after years of medical uncertainty and extensive evaluation. His condition is linked to a variation in the DNM1L gene, which eventually was classified as "likely pathogenic," marking it as the underlying cause of his symptoms.

Oliver’s developmental challenges began early. He did not learn to walk until 22 months old and exhibited abnormal movements and frequent falls. Initially, medical professionals considered diagnoses including cerebral palsy and muscular dystrophy, but multiple tests, including brain imaging and physical exams, did not confirm these conditions. For years, his symptoms remained unexplained despite efforts from various clinicians.

A breakthrough came after Oliver underwent whole exome sequencing, a genetic test capable of identifying rare or hidden mutations. The test uncovered a de novo variant—a mutation not inherited from his parents—in the DNM1L gene. This gene encodes a protein critical for mitochondrial and peroxisomal function, affecting cellular energy production and maintenance. At first, doctors regarded the variant as of uncertain significance because other DNM1L-related disorders had presented with more severe symptoms such as early-onset epilepsy, differing from Oliver’s clinical picture.

Through connections made via the Undiagnosed Diseases Network, researchers including pediatrician and medical geneticist Michael Wangler began studying Oliver’s specific mutation. Using fruit fly models engineered to carry the equivalent mutation, Wangler’s team demonstrated that the gene variant disrupted normal function and produced symptoms similar to Oliver’s movement difficulties. This research helped clarify the mutation’s role and led to reclassification of the variant as likely pathogenic.

Clinically, Oliver displayed dystonia-like symptoms characterized by involuntary muscle contractions causing abnormal movement, such as his leg turning inward when walking. Medications commonly used for movement disorders, notably levodopa-carbidopa (Sinemet), provided symptomatic relief. Increasing the dosage improved his mobility—allowing him to walk without crutches and climb stairs more easily—though it did not halt the disorder’s progression.

Oliver now attends school with the support of an aide and uses an electric wheelchair for transportation, though he can walk inside the classroom. On better days, he experiences limited pain, but his condition can fluctuate, affecting both his physical abilities and cognitive processing. Despite these challenges, Oliver leads a relatively typical teenage life, enjoying video games, archery, reading, and social activities.

To raise awareness and support others affected by DNM1L-related conditions, the Broner family established a foundation focused on fostering research and connecting families worldwide. They have documented at least 58 cases to date. Both parents emphasize the ongoing need for understanding and resources for rare genetic disorders like their son’s, highlighting the importance of collaborative research efforts in delivering diagnoses and treatments for complex medical cases.

This article was reported by synthesizing coverage from multiple independent news outlets to present a balanced, unbiased account. Read about our editorial standards. Spotted an error? Let us know.